Differentials
Non-accidental injury
SIGNS / SYMPTOMS
Metaphyseal corner fractures, bucket handle fractures, multiple fractures in various forms of healing, and complex skull fractures are suggestive of non-accidental trauma. Diagnosis requires thorough evaluation of the child and accompanying social circumstances.
INVESTIGATIONS
Skeletal survey (including a repeat skeletal survey 11 to 14 days after presentation): identification of occult fractures (e.g., rib fractures, classic metaphyseal lesions, digit fractures); normal bone mineralisation; no evidence of bone disease; possible soft tissue swelling.
Idiopathic juvenile osteoporosis
SIGNS / SYMPTOMS
Diagnosis is supported by absence of other features of OI including blue-grey sclera, dental abnormalities, and hearing loss.
INVESTIGATIONS
Clinical diagnosis.
Hypophosphatasia
SIGNS / SYMPTOMS
There may be early loss of primary dentition and chondrocalcinosis.
INVESTIGATIONS
Laboratory studies: may reveal low serum alkaline phosphatase activity, elevated serum pyridoxal-5'-phosphate, and elevated urinary phosphoethanolamine. Genetic testing: pathogenic variants in ALPL.
Osteoporosis pseudoglioma syndrome
SIGNS / SYMPTOMS
Pseudoglioma, cataracts, and/or blindness may be present.
INVESTIGATIONS
Genetic testing: pathogenic variants in LRP5.
Hajdu-Cheney syndrome
SIGNS / SYMPTOMS
Typically characterised by acro-osteolysis and dysmorphic facial features.
INVESTIGATIONS
Genetic testing: pathogenic variants in NOTCH2.
Plastin 3-related osteoporosis
SIGNS / SYMPTOMS
X-linked inheritance pattern may be apparent on examination of family history; absence of extraskeletal manifestations observed in OI.
INVESTIGATIONS
Genetic testing: pathogenic variants in PLS3.
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